Published in J Autism Dev Disord on February 01, 2005
Probing genetic overlap among complex human phenotypes. Proc Natl Acad Sci U S A (2007) 3.79
AutDB: a gene reference resource for autism research. Nucleic Acids Res (2008) 2.62
Deletion 22q13.3 syndrome. Orphanet J Rare Dis (2008) 1.77
Autistic spectrum disorders in velo-cardio facial syndrome (22q11.2 deletion). J Autism Dev Disord (2006) 1.65
Screening for autism spectrum disorders in children with Down syndrome: population prevalence and screening test characteristics. J Dev Behav Pediatr (2010) 1.63
Multiple rare variants in the etiology of autism spectrum disorders. Dialogues Clin Neurosci (2009) 1.39
Autism spectrum disorder in fragile X syndrome: a longitudinal evaluation. Am J Med Genet A (2009) 1.33
Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder. Am J Med Genet A (2008) 1.20
The Study to Explore Early Development (SEED): a multisite epidemiologic study of autism by the Centers for Autism and Developmental Disabilities Research and Epidemiology (CADDRE) network. J Autism Dev Disord (2012) 1.14
What can we learn about autism from studying fragile X syndrome? Dev Neurosci (2011) 1.11
Brief report: Visual processing of faces in individuals with fragile X syndrome: an eye tracking study. J Autism Dev Disord (2009) 1.07
Gene × Environment interactions in autism spectrum disorders: role of epigenetic mechanisms. Front Psychiatry (2014) 1.05
Systematic mapping of fragile X granules in the mouse brain reveals a potential role for presynaptic FMRP in sensorimotor functions. J Comp Neurol (2012) 1.05
Cellular and synaptic network defects in autism. Curr Opin Neurobiol (2012) 1.02
Fragile X mental retardation protein has a unique, evolutionarily conserved neuronal function not shared with FXR1P or FXR2P. Dis Model Mech (2010) 1.02
The fragile X mental retardation protein in circadian rhythmicity and memory consolidation. Mol Neurobiol (2009) 0.99
In vivo neuronal function of the fragile X mental retardation protein is regulated by phosphorylation. Hum Mol Genet (2011) 0.96
Links between genetics and pathophysiology in the autism spectrum disorders. EMBO Mol Med (2011) 0.95
Disturbed cingulate glutamate metabolism in adults with high-functioning autism spectrum disorder: evidence in support of the excitatory/inhibitory imbalance hypothesis. Mol Psychiatry (2014) 0.93
Activity-dependent modulation of neural circuit synaptic connectivity. Front Mol Neurosci (2009) 0.93
Behavior and neuropsychiatric manifestations in Angelman syndrome. Neuropsychiatr Dis Treat (2008) 0.92
Reliability of eye tracking and pupillometry measures in individuals with fragile X syndrome. J Autism Dev Disord (2011) 0.91
Epigenomic strategies at the interface of genetic and environmental risk factors for autism. J Hum Genet (2013) 0.90
Two boys with 47, XXY and autism. J Autism Dev Disord (2007) 0.90
Parent-of-origin effects in autism identified through genome-wide linkage analysis of 16,000 SNPs. PLoS One (2010) 0.89
Communication, interventions, and scientific advances in autism: a commentary. Physiol Behav (2010) 0.89
The fragile X mental retardation protein developmentally regulates the strength and fidelity of calcium signaling in Drosophila mushroom body neurons. Neurobiol Dis (2010) 0.89
Prevalence of autism spectrum disorders in an Icelandic birth cohort. BMJ Open (2013) 0.88
Acquired autistic behaviors in children with mucopolysaccharidosis type IIIA. J Pediatr (2014) 0.88
Autism Symptomatology in Boys with Fragile X Syndrome: A Cross Sectional Developmental Trajectories Comparison with Nonsyndromic Autism Spectrum Disorder. J Autism Dev Disord (2015) 0.87
Consistency between research and clinical diagnoses of autism among boys and girls with fragile X syndrome. J Intellect Disabil Res (2014) 0.86
Parent report of stereotyped behaviors, social interaction, and developmental disturbances in individuals with Angelman syndrome. J Autism Dev Disord (2007) 0.86
Twins with KBG syndrome and autism. J Autism Dev Disord (2009) 0.84
A comparison of pragmatic language in boys with autism and fragile X syndrome. J Speech Lang Hear Res (2014) 0.84
Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk? Mol Autism (2013) 0.83
A brain region-specific predictive gene map for autism derived by profiling a reference gene set. PLoS One (2011) 0.82
Alterations in sociability and functional brain connectivity caused by early-life seizures are prevented by bumetanide. Neurobiol Dis (2015) 0.82
A different view on the checkerboard? Alterations in early and late visually evoked EEG potentials in Asperger observers. PLoS One (2014) 0.82
Are there cultural differences in parental interest in early diagnosis and genetic risk assessment for autism spectrum disorder? Front Pediatr (2014) 0.81
The medical care of children with autism. Eur J Pediatr (2012) 0.81
Should metabolic diseases be systematically screened in nonsyndromic autism spectrum disorders? PLoS One (2011) 0.81
An assay for social interaction in Drosophila fragile X mutants. Fly (Austin) (2010) 0.81
Brief report: altered social behavior in isolation-reared Fmr1 knockout mice. J Autism Dev Disord (2013) 0.80
Psychiatric and cognitive phenotype in children and adolescents with myotonic dystrophy. Eur Child Adolesc Psychiatry (2009) 0.80
Risk factors of acute behavioral regression in psychiatrically hospitalized adolescents with autism. J Can Acad Child Adolesc Psychiatry (2010) 0.79
Brief report: visual-spatial deficit in a 16-year-old girl with maternally derived duplication of proximal 15q. J Autism Dev Disord (2006) 0.79
Cardiac autonomic regulation in autism and Fragile X syndrome: a review. Psychol Bull (2014) 0.78
Diagnosing Autism in Individuals with Known Genetic Syndromes: Clinical Considerations and Implications for Intervention. Int Rev Res Dev Disabil (2015) 0.78
Animal model integration to AutDB, a genetic database for autism. BMC Med Genomics (2011) 0.78
Physiological arousal in autism and fragile X syndrome: group comparisons and links with pragmatic language. Am J Intellect Dev Disabil (2013) 0.77
Autism spectrum disorder, Klinefelter syndrome, and chromosome 3p21.31 duplication: a case report. MedGenMed (2007) 0.77
Brief Report: Syndromes in Autistic Children in a Finnish Birth Cohort. J Autism Dev Disord (2016) 0.77
Stranger Fear and Early Risk for Social Anxiety in Preschoolers with Fragile X Syndrome Contrasted to Autism Spectrum Disorder. J Autism Dev Disord (2017) 0.77
N-myristoylation regulates the axonal distribution of the Fragile X-related protein FXR2P. Mol Cell Neurosci (2014) 0.76
Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder. Mol Autism (2013) 0.76
Pragmatic Language in autism and fragile X syndrome: Genetic and clinical applications. Perspect Lang Learn Educ (2012) 0.76
A Developmental and Sequenced One-to-One Educational Intervention for Autism Spectrum Disorder: A Randomized Single-Blind Controlled Trial. Front Pediatr (2016) 0.75
Pharmacology and genetics of autism: implications for diagnosis and treatment. Per Med (2008) 0.75
Autism Spectrum Disorder Symptoms in Infants with Fragile X Syndrome: A Prospective Case Series. J Autism Dev Disord (2017) 0.75
A Novel Way to Measure and Predict Development: A Heuristic Approach to Facilitate the Early Detection of Neurodevelopmental Disorders. Curr Neurol Neurosci Rep (2017) 0.75
Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy. Int J Mol Sci (2017) 0.75
The Neurobiological Basis for Social Affiliation in Autism Spectrum Disorder and Schizophrenia. Curr Behav Neurosci Rep (2016) 0.75
A knowledge network for a dynamic taxonomy of psychiatric disease. Dialogues Clin Neurosci (2015) 0.75
Language Skills of Males with Fragile X Syndrome or Nonsyndromic Autism Spectrum Disorder. J Autism Dev Disord (2017) 0.75
The association between autism spectrum disorders and congenital anomalies by organ systems in a Finnish national birth cohort. J Autism Dev Disord (2015) 0.75
Medical comorbidities in children and adolescents with autism spectrum disorders and attention deficit hyperactivity disorders: a systematic review. Eur Child Adolesc Psychiatry (2017) 0.75
Noncomprehension Signaling in Males and Females With Fragile X Syndrome. J Speech Lang Hear Res (2017) 0.75
Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord (1994) 42.80
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet (1999) 22.84
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet (2003) 15.31
Autism diagnostic observation schedule: a standardized observation of communicative and social behavior. J Autism Dev Disord (1989) 7.53
UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet (1997) 5.97
Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med (1994) 5.35
Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. Am J Hum Genet (1997) 3.95
The behavioral phenotype in fragile X: symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders. J Dev Behav Pediatr (2001) 3.64
Autism. N Engl J Med (1997) 3.32
Interstitial deletion of (17)(p11.2p11.2) in nine patients. Am J Med Genet (1986) 3.12
The Smith-Lemli-Opitz syndrome. J Med Genet (2000) 3.05
The UCLA-University of Utah epidemiologic survey of autism: the etiologic role of rare diseases. Am J Psychiatry (1990) 2.48
Autistic symptoms among children and young adults with isodicentric chromosome 15. Am J Med Genet (1998) 2.38
Autism: towards an integration of clinical, genetic, neuropsychological, and neurobiological perspectives. J Child Psychol Psychiatry (1996) 2.33
Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). Am J Hum Genet (1991) 2.26
Autism and maternally derived aberrations of chromosome 15q. Am J Med Genet (1998) 2.16
Autism and genetics. A decade of research. Arch Gen Psychiatry (1988) 2.00
The fragile X syndrome. J Med Genet (1998) 2.00
22q13 deletion syndrome. Am J Med Genet (2001) 1.94
Autism and tuberous sclerosis. J Autism Dev Disord (1998) 1.84
Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. Am J Hum Genet (2003) 1.83
MECP2 mutation in male patients with non-specific X-linked mental retardation. FEBS Lett (2000) 1.82
Deletion of chromosome 2q37 and autism: a distinct subtype? J Autism Dev Disord (1999) 1.70
Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality. Am J Med Genet (1987) 1.69
Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype. J Med Genet (1998) 1.65
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Hum Mol Genet (2000) 1.61
An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids. Lancet (1984) 1.61
MECP2 mutations account for most cases of typical forms of Rett syndrome. Hum Mol Genet (2000) 1.58
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. Am J Hum Genet (2000) 1.57
The mucopolysaccharidoses: a clinical review and guide to management. Arch Dis Child (1995) 1.56
Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome. Am J Med Genet (2001) 1.55
The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders. Am J Med Genet (2001) 1.54
Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada. Am J Med Genet (2001) 1.51
Autism and associated medical disorders in a French epidemiological survey. J Am Acad Child Adolesc Psychiatry (1997) 1.49
Two affected boys in a Rett syndrome family: clinical and molecular findings. Neurology (2000) 1.48
Practice parameters for the assessment and treatment of children, adolescents, and adults with autism and other pervasive developmental disorders. American Academy of Child and Adolescent Psychiatry Working Group on Quality Issues. J Am Acad Child Adolesc Psychiatry (1999) 1.44
Cohen syndrome: essential features, natural history, and heterogeneity. Am J Med Genet (2001) 1.40
Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals. Am J Med Genet (1993) 1.39
Autism in Angelman syndrome: a population-based study. Pediatr Neurol (1996) 1.34
Role of the serotonin transporter gene in the behavioral expression of autism. Mol Psychiatry (2001) 1.30
MECP2 mutation in a boy with language disorder and schizophrenia. Am J Psychiatry (2002) 1.28
Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome. Mol Genet Metab (2001) 1.28
Autism and medical disorders: a review of the literature. Dev Med Child Neurol (1996) 1.28
Genetic counseling in autism and pervasive developmental disorders. J Autism Dev Disord (1998) 1.27
The value of investigation for genetic counselling in tuberous sclerosis. J Med Genet (1990) 1.25
Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males. Lancet (2000) 1.24
Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype. Clin Genet (2000) 1.22
Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15. Am J Hum Genet (1998) 1.16
A form of X-linked mental retardation with marfanoid habitus. Am J Med Genet (1984) 1.16
Case with autistic syndrome and chromosome 22q13.3 deletion detected by FISH. Am J Med Genet (2000) 1.14
Inborn errors of cholesterol biosynthesis. Adv Pediatr (2000) 1.13
Three probands with autistic disorder and isodicentric chromosome 15. Am J Med Genet (2000) 1.12
A mutation in adenylosuccinate lyase associated with mental retardation and autistic features. Nat Genet (1992) 1.11
Infantile autism and associated autosomal chromosome abnormalities: a register-based study and a literature survey. J Child Psychol Psychiatry (1999) 1.08
Maladaptive behavior differences in Prader-Willi syndrome due to paternal deletion versus maternal uniparental disomy. Am J Ment Retard (1999) 1.05
Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency. Hum Mol Genet (2000) 1.03
Developmental and degenerative patterns associated with cognitive, behavioural and motor difficulties in the Sanfilippo syndrome: an epidemiological study. J Ment Defic Res (1983) 1.03
Advances in molecular cytogenetics for the evaluation of mental retardation. Am J Med Genet C Semin Med Genet (2003) 1.02
Genetics of autism. Child Adolesc Psychiatr Clin N Am (2001) 1.00
Characteristics of two cases with dup(15)(q11.2-q12): one of maternal and one of paternal origin. Genet Med (2001) 1.00
Autism and phenylketonuria. J Autism Dev Disord (2003) 1.00
Lujan-Fryns syndrome in the differential diagnosis of schizophrenia. Am J Med Genet (1996) 0.98
MECP2 mutation in non-fatal, non-progressive encephalopathy in a male. J Med Genet (2001) 0.97
Chromosome subband 17p11.2 deletion: a minute deletion syndrome. J Med Genet (1988) 0.95
Genetics of childhood disorders: XLVII. Autism, part 6: duplication and inherited susceptibility of chromosome 15q11-q13 genes in autism. J Am Acad Child Adolesc Psychiatry (2003) 0.95
Mental retardation: genetic findings, clinical implications and research agenda. J Child Psychol Psychiatry (1996) 0.93
Correlates of maladaptive behavior in children and adults with Prader-Willi syndrome. Am J Med Genet (1995) 0.93
Absence of MeCP2 mutations in patients from the South Carolina autism project. Am J Med Genet B Neuropsychiatr Genet (2003) 0.92
Phenotypic variation of tuberous sclerosis in a single extended kindred. J Med Genet (1994) 0.90
Cohen syndrome: the clinical symptoms and stigmata at a young age. Clin Genet (1996) 0.90
No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients. Eur J Hum Genet (2001) 0.88
Molecular and cytogenetic analyses of autism in Taiwan. Hum Genet (1993) 0.85
X chromosome and infantile autism. Biol Psychiatry (1996) 0.84
[Microdeletion 22q11: apropos of case of schizophrenia in an adolescent]. Encephale (2001) 0.84
Clinical, cytogenetic, and molecular evaluation of a patient with partial trisomy 21 (21q11-q22) lacking the classical Down syndrome phenotype. Am J Med Genet Suppl (1990) 0.83
What is associated with the fragile X syndrome? Am J Med Genet (1993) 0.83
Behaviour problems in Angelman syndrome. J Intellect Disabil Res (1995) 0.83
Autism, mental retardation, and chromosomal abnormalities. J Autism Dev Disord (1986) 0.83
Autistic social dysfunction and Down syndrome. J Am Acad Child Adolesc Psychiatry (1988) 0.83
Granulocytopenia in Cohen syndrome. Br J Haematol (1997) 0.82
Behavioral phenotypes: conceptual and methodological issues. Am J Med Genet (1998) 0.82
Case reports of autism with interstitial deletion of chromosome 17 (p11.2 p11.2) and monosomy of chromosome 5 (5pter-->5p15.3). Psychiatr Genet (1994) 0.82
Adenylosuccinase deficiency: possibly underdiagnosed encephalopathy with variable clinical features. Eur J Paediatr Neurol (1999) 0.82
Autism in Down's syndrome: family history correlates. J Intellect Disabil Res (1997) 0.80
Autism and adenylosuccinase deficiency. J Am Acad Child Adolesc Psychiatry (2000) 0.79
X-linked mental retardation with marfanoid habitus. Am J Med Genet (1991) 0.79
Autism is not associated with the fragile X syndrome. Am J Med Genet (1989) 0.79
A case of infantile autism associated with Down's syndrome. J Autism Dev Disord (1979) 0.78
PDD and Prader-Willi syndrome. J Am Acad Child Adolesc Psychiatry (1995) 0.78
Adenylosuccinate lyase (ADSL) and infantile autism: absence of previously reported point mutation. Am J Med Genet (1995) 0.76
Molecular screening for proximal 15q abnormalities in a mentally retarded population. J Med Genet (1998) 0.76
A case report of an autistic girl with an extra bisatellited marker chromosome. J Autism Child Schizophr (1977) 0.75
Hypopigmented skin alterations resembling tuberous sclerosis in normal skin. J Med Genet (1996) 0.75
Phenylketonuria: an underlying etiology of autistic syndrome. A case report. J Child Neurol (1992) 0.75
Autism and Asperger's syndrome. Curr Opin Pediatr (1997) 0.75
[Dysmorphic syndromes at birth: what to do?]. Arch Pediatr (2001) 0.75
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet (2006) 11.14
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat Genet (2006) 5.26
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am J Hum Genet (2012) 3.80
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet (2006) 3.69
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet (2006) 2.68
Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nat Genet (2005) 2.64
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. Nat Genet (2011) 2.52
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. Am J Hum Genet (2006) 2.44
WDR62 is associated with the spindle pole and is mutated in human microcephaly. Nat Genet (2010) 2.40
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain (2013) 2.40
High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations. J Am Soc Nephrol (2007) 2.06
CHARGE syndrome: an update. Eur J Hum Genet (2007) 2.03
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. J Med Genet (2007) 2.02
Elements of morphology: standard terminology for the lips, mouth, and oral region. Am J Med Genet A (2009) 1.96
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet (2004) 1.94
Prenatal depression, prenatal anxiety, and spontaneous preterm birth: a prospective cohort study among women with early and regular care. Psychosom Med (2006) 1.90
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. J Med Genet (2007) 1.89
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. Am J Hum Genet (2002) 1.88
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. Nat Genet (2013) 1.87
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes. J Med Genet (2012) 1.79
Many roads lead to primary autosomal recessive microcephaly. Prog Neurobiol (2009) 1.78
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet (2012) 1.70
Epilepsy in autism is associated with intellectual disability and gender: evidence from a meta-analysis. Biol Psychiatry (2008) 1.69
Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. Am J Med Genet B Neuropsychiatr Genet (2007) 1.65
The mutation spectrum in RECQL4 diseases. Eur J Hum Genet (2008) 1.61
Key clinical features to identify girls with CDKL5 mutations. Brain (2008) 1.59
Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1. Dev Med Child Neurol (2012) 1.53
The genetic basis of inherited anomalies of the teeth. Part 1: clinical and molecular aspects of non-syndromic dental disorders. Eur J Med Genet (2008) 1.52
Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome. Eur J Med Genet (2011) 1.48
Orofaciodigital syndrome with cerebral dysgenesis. Am J Med Genet A (2006) 1.45
Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome. Am J Med Genet A (2009) 1.44
Genome scan for familial abdominal aortic aneurysm using sex and family history as covariates suggests genetic heterogeneity and identifies linkage to chromosome 19q13. Circulation (2004) 1.44
Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities. Cell Rep (2012) 1.43
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. Hum Mutat (2009) 1.43
Should chromosome breakage studies be performed in patients with VACTERL association? Am J Med Genet A (2005) 1.42
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. Hum Mol Genet (2012) 1.41
FXTAS: new insights and the need for revised diagnostic criteria. Neurology (2012) 1.39
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. Am J Hum Genet (2012) 1.38
Loss-of-function mutations in RAB18 cause Warburg micro syndrome. Am J Hum Genet (2011) 1.36
PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. Am J Hum Genet (2013) 1.33
Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders. Biol Psychiatry (2009) 1.32
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. Nephron Physiol (2013) 1.31
Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly. J Med Genet (2012) 1.30
MECP2 mutation in a boy with language disorder and schizophrenia. Am J Psychiatry (2002) 1.28
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. Eur J Hum Genet (2005) 1.28
Nocturnal excretion of 6-sulphatoxymelatonin in children and adolescents with autistic disorder. Biol Psychiatry (2005) 1.28
Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive. Am J Med Genet A (2006) 1.25
C5orf42 is the major gene responsible for OFD syndrome type VI. Hum Genet (2013) 1.24
Brain anomalies in encephalocraniocutaneous lipomatosis. Am J Med Genet A (2007) 1.22
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. Hum Mutat (2014) 1.21
Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients. J Clin Endocrinol Metab (2010) 1.21
Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutations. Hum Mol Genet (2006) 1.21
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome. J Med Genet (2010) 1.21
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. Eur J Hum Genet (2008) 1.19
Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations. Neurology (2009) 1.19
GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients. Arch Otolaryngol Head Neck Surg (2005) 1.19
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. Am J Med Genet A (2007) 1.18
Further delineation of Kabuki syndrome in 48 well-defined new individuals. Am J Med Genet A (2005) 1.17
Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease. Proc Natl Acad Sci U S A (2009) 1.17
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. Eur J Hum Genet (2009) 1.15
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders. Hum Mutat (2008) 1.14
Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression. Hum Mol Genet (2009) 1.13
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. Am J Hum Genet (2013) 1.12
Familial abdominal aortic aneurysms: collection of 233 multiplex families. J Vasc Surg (2003) 1.12
Clinical expression of Menkes disease in females with normal karyotype. Orphanet J Rare Dis (2012) 1.11
Nicolaides-Baraitser syndrome: Delineation of the phenotype. Am J Med Genet A (2009) 1.11
Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome). Eur J Pediatr (2003) 1.11
The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene. Pediatrics (2007) 1.11
The three stages of epilepsy in patients with CDKL5 mutations. Epilepsia (2008) 1.11
Clinical relevance of chronic catatonic schizophrenia in children and adolescents: evidence from a prospective naturalistic study. Schizophr Res (2005) 1.10
Craniosynostosis: A rare complication of pycnodysostosis. Eur J Med Genet (2010) 1.10
Are patients with schizophrenia insensitive to pain? A reconsideration of the question. Clin J Pain (2009) 1.10
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients. Epilepsia (2011) 1.09
Cardio-facio-cutaneous syndrome: does genotype predict phenotype? Am J Med Genet C Semin Med Genet (2011) 1.08
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation. Hum Mutat (2010) 1.08
Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases. Ann Genet (2004) 1.07
Mutations in two regions of FLNB result in atelosteogenesis I and III. Hum Mutat (2006) 1.06
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. Hum Mol Genet (2013) 1.06
Depression during pregnancy: is the developmental impact earlier in boys? A prospective case-control study. J Clin Psychiatry (2010) 1.06
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. Hum Mutat (2011) 1.06
Microcephaly. Handb Clin Neurol (2013) 1.05
SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism. Hum Genet (2002) 1.04
Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients. Eur J Med Genet (2010) 1.04